Association between JAK2 V617F variable allele frequency and risk of thrombotic events in patients with myeloproliferative neoplasms

Ryan Brown, Joanna Jasiakiewicz, Victoria Greer, Andrew Hindley, Katie McDowell, Eadaoin Devlin, Kathryn Clarke, Frances Buckley, Clare Crean, Julie McGimpsey, Robert J. G. Cuthbert, Nick Cunningham, Claire Arnold, Damian Finnegan, Gary Benson, Mary Frances McMullin*, Mark A. Catherwood

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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Abstract

Background
Myeloproliferative neoplasms (MPNs) are a group of chronic disorders of the bone marrow characterised by the overproduction of clonal myeloid stem cells. The most common driver mutation found in MPNs is a point mutation on exon 14 of the JAK2 gene, JAK2V617F. Various studies have suggested that measuring the variable allele frequency (VAF) of JAK2V617F may provide useful insight regarding diagnosis, treatment, risks and outcomes in MPN patients. In particular, JAK2V617F has been associated with increased risk of thrombotic events, a leading cause of mortality in MPNs.

Aims
The aim of this study was to determine if JAK2V617F VAF was associated with clinical outcomes in patients with MPN.

Methods
JAK2V617F VAF was determined by quantitative PCR (qPCR) in a cohort of 159 newly diagnosed MPN patients, and the association of JAK2V617F VAF and risk of thrombosis was examined in this cohort.

Results
We observed a significantly higher JAK2V617F VAF in PV and PMF versus ET. A significant association was observed between JAK2V617F VAF and risk of thrombotic events. When patients were stratified by thrombotic events prior to and post diagnosis, an association with JAK2V617F VAF was only observed with post diagnosis thrombotic events. Of note, these associations were not observed when looking at each MPN subtype in isolation.

Conclusions
We have shown that a higher JAK2V617F VAF is associated with thrombotic events post MPN diagnosis. JAK2V617F VAF may therefore provide a valuable prognostic indicator for risk of thrombosis in MPNs.


Original languageEnglish
Number of pages6
JournalIrish Journal of Medical Science
Early online date14 Aug 2024
DOIs
Publication statusEarly online date - 14 Aug 2024

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